LARS2 - leucyl-tRNA synthetase 2, mitochondrial Gene

Also Known as HLASA; LEURS; PRLTS4; mtLeuRS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23395

About LARS2

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:45,388,576-45,549,407 (from NCBI)

This gene has 12 transcripts (splice variants), 206 orthologues, 7 paralogues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 6.2), brain (RPKM 5.0) and 25 other tissues.

Summary

This gene encodes a class 1 Aminoacyl-tRNA Synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

LARS2 Products (2)

mRNA	Protein	Name
NM_001368263.1	NP_001355192.1	leucine--tRNA ligase, mitochondrial
NM_015340.4	NP_056155.1	leucine--tRNA ligase, mitochondrial

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables leucine-tRNA ligase activity	IDA IDA: Inferred from direct assay	10684970	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in leucyl-tRNA aminoacylation	IDA IDA: Inferred from direct assay	10684970	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LARS2 Protein Structure

tRNA-synt_1

Anticodon_1

0
200
400
600
800
903 a.a.

Protein Preferred Names	Protein Names
leucine--tRNA ligase, mitochondrial	leucine tRNA ligase 2, mitochondrial

Related Diseases

Diseases	Alias
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hydrops-Lactic Acidosis-Sideroblastic Anemia-Multisystemic Failure Syndrome HLASA
Perrault Syndrome 4	PRLTS4 Perrault Syndrome, Type 4
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Rare Genetic Deafness	Rare Genetic Hearing Loss
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Developmental And Epileptic Encephalopathy 75	DEE75 Epileptic Encephalopathy, Early Infantile, 75 Eiee75 Developmental And Epileptic Encephalopathy, 75 Early Infantile Epileptic Encephalopathy 75
Deafness, Autosomal Recessive 94	DFNB94 Autosomal Recessive Nonsyndromic Deafness 94 Autosomal Recessive Deafness 94 Deafness, Autosomal Recessive, 94
Deafness, Autosomal Recessive 89	DFNB89 Autosomal Recessive Nonsyndromic Deafness 89 Autosomal Recessive Deafness 89 Deafness, Autosomal Recessive, 89 Deafness, Autosomal Recessive, Type 89
Tremor, Hereditary Essential, 2	ETM2 Essential Tremor 2 Essential Tremor, Hereditary, 2 Hereditary Essential Tremor 2 Tremor Hereditary Essential, 2
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	PEOA3 Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 3 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 3 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 3 Autosomal Dominant Progressive External Ophthalmoplegia 3 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant 3 Progressive External Ophthalmoplegia, Autosomal Dominant, 3 Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 3 Kearns-Sayre Syndrome
Pontocerebellar Hypoplasia, Type 6	Pontocerebellar Hypoplasia Type 6 PCH6 Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects Pontocerebellar Hypoplasia 6 Hypoplasia, Pontocerebellar, Type 6
46 Xx Gonadal Dysgenesis	Ovarian Dysgenesis Gonadal Dysgenesis, 46,Xx Dysgenesis, Ovarian
Fetishism	Fetishism, Psychiatric
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
Infantile Liver Failure Syndrome	Infantile Liver Failure
Multiple Synostoses Syndrome	Symphalangism-Brachydactyly Syndrome Deafness-Hermann Type Symphalangism Syndrome Facio-Audio-Symphalangism Hearing Loss-Hermann Type Symphalangism Syndrome Wl Syndrome Multiple Synostosis Syndrome
Meckel'S Diverticulitis	Meckel Diverticulitis
Multidrug-Resistant Tuberculosis	Tuberculosis, Multidrug-Resistant Tuberculosis Multidrug-Resistant
D-Bifunctional Protein Deficiency	Bifunctional Peroxisomal Enzyme Deficiency 17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency Dbp Deficiency Peroxisomal Bifunctional Enzyme Deficiency Pbfe Deficiency Bifunctional Enzyme Deficiency Pseudo-Zellweger Syndrome Zellweger-Like Syndrome DBPD Protein Deficiency, D-Bifunctional
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Sleeping Sickness	African Trypanosomiasis African Sleeping Sickness Trypanosomiasis, Human East-African Trypanosomiasis, East African Trypanosomiasis African Trypanosomiasis, African Human African Trypanosomiasis
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Pontocerebellar Hypoplasia	Pch Congenital Pontocerebellar Hypoplasia Opch Hypoplasia, Pontocerebellar Pontoneocerebellar Hypoplasia Nonsyndromic Pontocerebellar Hypoplasia
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Melas Syndrome MELAS Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21628	Lars2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07533	LARS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28146	Lars2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	LARS2	MGD	MGI:2142973
Bos taurus	LARS2	VGNC	VGNC:30796
Felis catus	LARS2	VGNC	VGNC:63197
Canis familiaris	LARS2	VGNC	VGNC:42593
Rattus norvegicus	LARS2	RGD	RGD:1308429
Macaca mulatta	LARS2	VGNC	VGNC:74063